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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Ankyloblepharon Filiforme Adnatum
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Accession:DOID:9004371 term browser browse the term
Synonyms:exact_synonym: AFA;   Ankyloblepharon Filiforme Adnatum and Cleft Palate;   Ankyloblepharon filiforme adnatum cleft palate;   Ankyloblepharon filiforme congenitum;   Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip
 primary_id: MESH:C536373;   RDO:0001936
 alt_id: OMIM:106250


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Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      orofacial cleft 182
        cleft palate 138
          Ankyloblepharon Filiforme Adnatum 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14120
          Musculoskeletal Abnormalities 5236
            Craniofacial Abnormalities 4196
              Maxillofacial Abnormalities 372
                Jaw Abnormalities 321
                  orofacial cleft 182
                    cleft palate 138
                      Ankyloblepharon Filiforme Adnatum 1
paths to the root